D10A (p.Asp10Ala) variant of JMJD4 (Q9H9V9)
D10A (p.Asp10Ala) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D10A (p.Asp10Ala) variant details
- p.Asp10Ala
- ExAC rs749569436
- TOPMed rs749569436
- gnomAD rs749569436
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.04
- CADD 17.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available